Incidental Mutation 'R1722:Efcab7'
ID 191530
Institutional Source Beutler Lab
Gene Symbol Efcab7
Ensembl Gene ENSMUSG00000073791
Gene Name EF-hand calcium binding domain 7
Synonyms
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 99717440-99769985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99757815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 321 (T321S)
Ref Sequence ENSEMBL: ENSMUSP00000095572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097959]
AlphaFold Q8VDY4
Predicted Effect probably benign
Transcript: ENSMUST00000097959
AA Change: T321S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: T321S

DomainStartEndE-ValueType
low complexity region 85 99 N/A INTRINSIC
SCOP:d2pvba_ 339 408 2e-4 SMART
Blast:EFh 348 376 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123830
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Other mutations in Efcab7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Efcab7 APN 4 99,719,700 (GRCm39) missense probably benign 0.12
3-1:Efcab7 UTSW 4 99,758,966 (GRCm39) missense possibly damaging 0.83
R0023:Efcab7 UTSW 4 99,758,834 (GRCm39) splice site probably benign
R0085:Efcab7 UTSW 4 99,761,877 (GRCm39) unclassified probably benign
R0122:Efcab7 UTSW 4 99,749,560 (GRCm39) splice site probably benign
R0326:Efcab7 UTSW 4 99,719,631 (GRCm39) missense possibly damaging 0.86
R0382:Efcab7 UTSW 4 99,758,966 (GRCm39) missense possibly damaging 0.83
R0410:Efcab7 UTSW 4 99,735,487 (GRCm39) critical splice donor site probably null
R0413:Efcab7 UTSW 4 99,766,943 (GRCm39) missense probably damaging 1.00
R0611:Efcab7 UTSW 4 99,758,886 (GRCm39) missense probably damaging 1.00
R0689:Efcab7 UTSW 4 99,761,981 (GRCm39) missense probably damaging 1.00
R1114:Efcab7 UTSW 4 99,735,452 (GRCm39) nonsense probably null
R1459:Efcab7 UTSW 4 99,769,744 (GRCm39) missense probably null 1.00
R1932:Efcab7 UTSW 4 99,768,215 (GRCm39) missense probably damaging 1.00
R1954:Efcab7 UTSW 4 99,757,887 (GRCm39) missense probably damaging 1.00
R2305:Efcab7 UTSW 4 99,719,718 (GRCm39) missense possibly damaging 0.95
R2358:Efcab7 UTSW 4 99,719,823 (GRCm39) unclassified probably benign
R2845:Efcab7 UTSW 4 99,766,835 (GRCm39) missense probably damaging 0.99
R3915:Efcab7 UTSW 4 99,735,375 (GRCm39) missense probably damaging 0.98
R4469:Efcab7 UTSW 4 99,766,901 (GRCm39) missense possibly damaging 0.73
R4686:Efcab7 UTSW 4 99,735,318 (GRCm39) missense probably benign 0.29
R4737:Efcab7 UTSW 4 99,719,805 (GRCm39) nonsense probably null
R4970:Efcab7 UTSW 4 99,719,780 (GRCm39) missense probably damaging 1.00
R5120:Efcab7 UTSW 4 99,754,688 (GRCm39) missense probably damaging 1.00
R5264:Efcab7 UTSW 4 99,735,372 (GRCm39) missense probably benign 0.27
R5366:Efcab7 UTSW 4 99,761,931 (GRCm39) missense possibly damaging 0.95
R5901:Efcab7 UTSW 4 99,766,941 (GRCm39) missense probably damaging 0.99
R6255:Efcab7 UTSW 4 99,717,627 (GRCm39) unclassified probably benign
R6438:Efcab7 UTSW 4 99,766,969 (GRCm39) missense probably benign 0.39
R6451:Efcab7 UTSW 4 99,719,738 (GRCm39) nonsense probably null
R6717:Efcab7 UTSW 4 99,761,931 (GRCm39) missense possibly damaging 0.95
R6766:Efcab7 UTSW 4 99,735,161 (GRCm39) frame shift probably null
R6855:Efcab7 UTSW 4 99,757,777 (GRCm39) nonsense probably null
R6865:Efcab7 UTSW 4 99,769,793 (GRCm39) missense probably damaging 1.00
R7868:Efcab7 UTSW 4 99,746,154 (GRCm39) missense probably benign 0.01
R7893:Efcab7 UTSW 4 99,746,058 (GRCm39) missense probably damaging 1.00
R8069:Efcab7 UTSW 4 99,717,615 (GRCm39) missense unknown
R8787:Efcab7 UTSW 4 99,757,791 (GRCm39) missense probably null 0.99
R9214:Efcab7 UTSW 4 99,735,437 (GRCm39) missense probably damaging 1.00
R9649:Efcab7 UTSW 4 99,761,902 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTGTTGAAGACATTTGCATCACACAC -3'
(R):5'- TTTAAGCACACTAGCCATCATGCTGT -3'

Sequencing Primer
(F):5'- GCATCACACACATTTGTGAAGG -3'
(R):5'- CTGTGGTAAGATGCTGAATTAAAGC -3'
Posted On 2014-05-14